@article {149,
	title = {Germline mutation in : a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation.},
	journal = {HGG Adv},
	volume = {2},
	year = {2021},
	month = {2021 Jan 14},
	abstract = {<p> germline variation in  was recently reported to associate with a neurodevelopmental disorder. We report twelve individuals harboring putatively pathogenic  or inherited variants in , detail their phenotypes, and map all known variants to the domain structure of  and crystal structure of RNA polymerase II. Affected individuals were ascertained from a local data lake, pediatric genetics clinic, and an online community of families of affected individuals. These include six affected by  missense variants (including one previously reported individual), four clinical laboratory samples affected by missense variation with unknown inheritance-with yeast functional assays further supporting altered function-one affected by a  in-frame deletion, and one affected by a C-terminal frameshift variant inherited from a largely asymptomatic mother. Recurrently observed phenotypes include ataxia, joint hypermobility, short stature, skin abnormalities, congenital cardiac abnormalities, immune system abnormalities, hip dysplasia, and short Achilles tendons. We report a significantly higher occurrence of epilepsy (8/12, 66.7\%) than previously reported (3/15, 20\%) (p value = 0.014196; chi-square test) and a lower occurrence of hypotonia (8/12, 66.7\%) than previously reported (14/15, 93.3\%) (p value = 0.076309). -related developmental disorders likely represent a spectrum of related, multi-systemic developmental disorders, driven by distinct mechanisms, converging at a single locus.</p>},
	issn = {2666-2477},
	doi = {10.1016/j.xhgg.2020.100014},
	author = {Hansen, Adam W and Arora, Payal and Khayat, Michael M and Smith, Leah J and Lewis, Andrea M and Rossetti, Linda Z and Jayaseelan, Joy and Cristian, Ingrid and Haynes, Devon and DiTroia, Stephanie and Meeks, Naomi and Delgado, Mauricio R and Rosenfeld, Jill A and Pais, Lynn and White, Susan M and Meng, Qingchang and Pehlivan, Davut and Liu, Pengfei and Gingras, Marie-Claude and Wangler, Michael F and Muzny, Donna M and Lupski, James R and Kaplan, Craig D and Gibbs, Richard A}
}
@article {48,
	title = {The phenotypic spectrum of Xia-Gibbs syndrome.},
	journal = {Am J Med Genet A},
	volume = {176},
	year = {2018},
	month = {2018 06},
	pages = {1315-1326},
	abstract = {<p>Xia-Gibbs syndrome (XGS: OMIM $\#$ 615829) results from de novo truncating mutations within the AT-Hook DNA Binding Motif Containing 1 gene (AHDC1). To further define the phenotypic and molecular spectrum of this disorder, we established an XGS Registry and recruited patients from a worldwide pool of approximately 60 probands. Additional de novo truncating mutations were observed among 25 individuals, extending both the known number of mutation sites and the range of positions within the coding region that were sensitive to alteration. Detailed phenotypic examination of 20 of these patients via clinical records review and data collection from additional surveys showed a wider age range than previously described. Data from developmental milestones showed evidence for delayed speech and that males were more severely affected. Neuroimaging from six available patients showed an associated thinning of the corpus callosum and posterior fossa cysts. An increased risk of both scoliosis and seizures relative to the population burden was also observed. Data from a modified autism screening tool revealed that XGS shares significant overlap with autism spectrum disorders. These details of the phenotypic heterogeneity of XGS implicate specific genotype/phenotype correlations and suggest potential clinical management guidelines.</p>},
	issn = {1552-4833},
	doi = {10.1002/ajmg.a.38699},
	author = {Jiang, Yunyun and Wangler, Michael F and McGuire, Amy L and Lupski, James R and Posey, Jennifer E and Khayat, Michael M and Murdock, David R and Sanchez-Pulido, Luis and Ponting, Chris P and Xia, Fan and Hunter, Jill V and Meng, Qingchang and Murugan, Mullai and Gibbs, Richard A}
}
